Table 3. CNVs differentiated between human populations.
CNVs intersecting genes that show dramatic difference in copy number (as measured by Vst) between human populations (see Fig. 1 for definition of populations).
| Locus | Genes | Vst | Copy range |
Description |
|---|---|---|---|---|
| chr2:97849921-97899292 | ANKRD36 | 0.49 (OCN-WEA) | 30-41 | Repeat domain expanded to 45 copies in Papuans. |
| chr1:144146792-144224420 | NBPF | 0.32 (AFR-EA) | 185-271 | Expansion of the DUF1220 repeat domain in Africans and Amerindians. Copy number associated with cognitive function and autism severity (47). |
| chr6:35749042-35767153 | CLPS | 0.29 (AMR-SA) | 2-6 | Pancreatic colipase involved in dietary metabolism of long chain triglyceride fatty acids. Increased expression is negatively correlated with blood glucose in mice (30). |
| chr16:72088031-72119241 | HP, HPR | 0.25 (AFR-WEA) | 1-6 | Haptoglobin and haptoglobin-related genes are expanded exclusively in Africa and associated with a possible protective effect against trypanosomiasis (31). |
| chr12:64011854-64015265 | DPY19L2 | 0.32 (OCN-SA) | 5-7 | DPY genes are required for sperm head elongation and acrosome formation during spermatogenesis and DPY19L2 homozygous deletions have been identified as a major cause of globozoospermia (48). |
| chr1:74648583-74664195 | LRRIQ3 | 0.23 (AMR-WEA) | 2-3 | LRRIQ3 is duplicated exclusively in Siberian and Amerindian populations. |
| chr17:43692284-43708692 | CRHR1 | 0.25 (EA-WEA) | 4-7 | Deletions of corticotropin-releasing hormone receptor 1 result in reduced anxiety and neurotransmission impairments in mice (49). |
| chr5:150201231-150223428 | IRGM promoter | 0.25 (AFR-WEA) | 0-2 | The IRGM promoter CNV is a Crohn’s disease risk factor (50). |
| chr3:195771149-195776591 | TFRC promoter | 0.57 (AFR-EA) | 0-2 | Transferrin receptor is a cellular receptor for New World haemorrhagic fever arenaviruses (51). |